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Monosomy 7

Determination of Monosomy 7 among In Vitro Generated CD1a Positive Cells in Patients with Juvenile Myelomonocytic Leukemia

Determination of Monosomy 7 among In Vitro Generated CD1a Positive Cells in Patients with Juvenile Myelomonocytic Leukemia

... The MNC cells from three patients with JMML were cultured in RPMI/10% FCS for 7 days. At day 7 the cells were analyzed using immunocytochemistry. First to determine the proliferation status of the cells, ...

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Perturbed hematopoietic stem and progenitor cell hierarchy in myelodysplastic syndromes patients with monosomy 7 as the sole cytogenetic abnormality

Perturbed hematopoietic stem and progenitor cell hierarchy in myelodysplastic syndromes patients with monosomy 7 as the sole cytogenetic abnormality

... chromosome 7, del(7q) and monosomy 7 (-7), are associated with intermediate and high risk for transformation, respectively, both before [2, 6-8], and after allogeneic stem cell transplantation ...

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Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism

... Almost one year after surgery, he was seen at the gen- etics clinic for a follow-up visit. It was noted that several follow-up bone marrow biopsies indicated normal bone marrow without evidence of myelodysplasia. Chromo- ...

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A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony stimulating factor (G CSF): A case report

A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony stimulating factor (G CSF): A case report

... chromosome 7 in up to 76% of patients with SCN and 66% of patients with SDS, ...involving monosomy 7 in up to 58% of the patients ...of monosomy 7 cells in vitro ...

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Familial bone marrow monosomy 7  Evidence that the predisposing locus is not on the long arm of chromosome 7

Familial bone marrow monosomy 7 Evidence that the predisposing locus is not on the long arm of chromosome 7

... cytogenetic and epidemiologic features of cases of myelodysplasia and acute myelogenous leukemia (AML) associated with bone marrow monosomy 7 or partial deletion of the long arm (7q-). We used probes from ...

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Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

... lymphocytes. Monosomy 7, one complete ring, supernumerary large rings, and duplicated rings of chromosome 7, were ...chromosome 7 showed a majority of cells with a normal karyotype, in ...

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COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia

COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia

... identified monosomy 7, isochromosome 7q, and large interstitial deletions presenting breakpoints within COBL ...chromosome 7 in 43 diagnostic samples with IKZF1 ...that monosomy and large ...

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Myelodysplastic syndrome (MDS) associated with EBV  infection in a pediatric patient

Myelodysplastic syndrome (MDS) associated with EBV infection in a pediatric patient

... Immunohistochemistry of the BM smears using anti- bodies against EBV LMP1 antigen showed 9% LMP1 positive cells in all examined samples. FISH analysis of the LMP1 stained smears for monosomy 7 showed an ...

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Allogeneic stem cell transplantation in adult patients with acute myeloid leukaemia and 17p abnormalities in first complete remission: a study from the Acute Leukemia Working Party (ALWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Allogeneic stem cell transplantation in adult patients with acute myeloid leukaemia and 17p abnormalities in first complete remission: a study from the Acute Leukemia Working Party (ALWP) of the European Society for Blood and Marrow Transplantation (EBMT)

... alkylating agents such as 8–10 mg/kg busulfan, 80– 140 mg/m 2 melphalan, 600–1200 mg/m 2 cyclophospha- mide or 5–10 mg/kg thiotepa, and/or low-dose TBI (<3 Gy). The following variables have been selected and in- ...

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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

... of monosomy 7 (–7), deletions of 7q (7q–), and secondary somatic loss-of-function (nonsense and frameshift) mutations in SAMD9 rescued the growth-restricting effects of mutant SAMD9 proteins in bone ...

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Somatic mutations and progressive monosomy modify SAMD9 related phenotypes in humans

Somatic mutations and progressive monosomy modify SAMD9 related phenotypes in humans

... of monosomy 7 (–7), deletions of 7q (7q–), and secondary somatic loss-of-function (nonsense and frameshift) mutations in SAMD9 rescued the growth-restricting effects of mutant SAMD9 proteins in bone ...

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Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

... the monosomy of 21q, FISH experiments with cen- tromeric and site-specific DNA probes (Table 1; ...partial monosomy 7q34-qter and 21pter- ...chromosomes 7, note the similarity of banding ...

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A Study to Correlate Most Common Morphological Abnormalities with Female Monosomy X (Turner Syndrome)

A Study to Correlate Most Common Morphological Abnormalities with Female Monosomy X (Turner Syndrome)

... In the present study total 32 subjects revealed pure monosomy X karyotype. Out of which 20(62.5%) were presented with primary amenorrhoea; 6(18.75%) with secondary amenorrhoea; and 6(18.75%) subjects suspected of ...

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A mosaic form of microphthalmia with linear skin defects

A mosaic form of microphthalmia with linear skin defects

... The syndrome was firstly reported to be caused by ge- netic abnormalities resulting in Xp22.2 monosomy. With technological advances we detected pathogenic mutations in three critical genes encoding proteins ...

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Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant

Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant

... arm of an extra chromosome 13 had attached to the telo- meric end of the short arm of chromosome 8 (Figure 7). Therefore, the proband had partial trisomy for the major portion of the long arm of chromosome 13 ...

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Fine-Mapping Of 1p36 Deletion, Related To The Manifestation Of Hirsutism

Fine-Mapping Of 1p36 Deletion, Related To The Manifestation Of Hirsutism

... Since our patient has overlapped symptom of hirsutism with the patients of proximal 1p36 deletion syndrome, we therefore searched the database to identify potential candidate genes for this feature. Determining the ...

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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

... Metopic suture synostosis, resulting in trigonocephaly, has an estimated incidence of 1:15,000 live births [1, 4]. Little is known about its etiology and different theories have been proposed. An association of ...

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A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

... Deletion 1q44 syndrome is a well-recognized syn- drome archived in the National Medical Library http:// www.nlm.nih.gov/archive/20061212/mesh/jablonski/ mesh/jablonski/syndrome_db.html[5]. The clinical fea- tures of ...

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The genetic basis of medulloblastoma

The genetic basis of medulloblastoma

... individual to develop multiple basal cell carcinomas (BCCs) by puberty, multiple odontogenic keratocysts of the jaws, palmar and plantar dyskeratoses, as well as skeletal anomalies, especially malformed ribs (Gorlin, ...

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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

... Full monosomy 21 has been rarely reported and is likely to be lethal in utero ...confirmed monosomy 21 [2], mosaicism could not be ruled ...full monosomy 21 may not exist in live born and those ...

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